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Article

Functional Common and Rare ERBB2 Germline Variants Cooperate in Familial and Sporadic Cancer Susceptibility.

Cancer prevention research (Philadelphia, Pa.) - 1 Apr 2021

Bao Riyue, Ng Anita, Sasaki Mark, Esai Selvan Myvizhi, Katti Alyna, Lee Hyesan, Huang Lei, Skol Andrew D, Lavarino Cinzia, Salvador Hector, Klein Robert J, Gümüş Zeynep H, Mora Jaume, Onel Kenan

Abstract excerpt

We investigated a Spanish and Catalan family in which multiple cancer types tracked across three generations, but for which no genetic etiology had been identified. Whole-exome sequencing of germline DNA from multiple affected family members was performed to identify candidate variants to explain this occurrence of familial cancer. We discovered in all cancer-affected family members a single rare heterozygous...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33419763
DOI: 10.1158/1940-6207.CAPR-20-0094
PMCID: PMC8026518

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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